Hamartoses

Showing all 10 results

Placeholder

Encephalocraniocutaneous lipomatosis. FGFR1 gene sequencing [1 gene]

Ref.: S-202314154

Placeholder

Gorlin syndrome [3 genes]

Ref.: S-202009129

Placeholder

Klippel-Trenaunay-Weber syndrome. PIK3CA gene sequencing [1 gene]

Ref.: S-202211903

Placeholder

Linear nevus sebaceous syndrome. KRAS and HRAS gene sequencing [2 genes]

Ref.: S-202314153

Placeholder

Megalencephaly – capillary malformation – polymicrogyria. PIK3CA gene sequencing [1 gene]

Ref.: S-202211832

Placeholder

Neurocutaneous melanocytosis. NRAS gene sequencing [1 gene]

Ref.: S-202314152

Placeholder

Parkes-Weber syndrome (capillary malformation – arteriovenous malformation) [2 genes]

Ref.: S-202314151

Placeholder

Proteus syndrome. AKT1 gene sequencing [1 gene]

Ref.: S-202211508

Placeholder

PTEN Hamartoma tumor syndrome and differential diagnosis [16 genes]

Ref.: S-202211884

Placeholder

Sturge-Weber syndrome. Detection of the p.Arg183Gln mutation in the GNAQ gene. NexteGeneDx [1 gene]

Ref.: S-202212860